chr11:17387091:C>T Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,408,638-17,408,638 View the variant detail on this assembly version.
hg38 chr11:17,387,091-17,387,091

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.1001G>A NP_000516.3:p.Gly334Asp
NM_001166290.1:c.740G>A NP_001159762.1:p.Gly247Asp
Ensemble ENST00000339994.5:c.1001G>A ENST00000339994.5:p.Gly334Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600937 OMIM
HGNC 6257 HGNC
Ensembl ENSG00000187486 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided permanent neonatal diabetes mellitus unknown Detail
Benign criteria provided, single submitter Transitory neonatal diabetes mellitus somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
0.149 Neonatal diabetes mellitus In the absence of MgATP, gliclazide block was similar for wild-type channels and... BeFree 23835339 Detail
0.010 epilepsy Here we describe a patient with severe PNDM, which includes developmental delay ... BeFree 17259376 Detail
0.002 Developmental delay (disorder) Here we describe a patient with severe PNDM, which includes developmental delay ... BeFree 17259376 Detail
0.002 Developmental Delay, Epilepsy, and Neonatal Diabetes An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-inse... BeFree 17259376 Detail
0.149 Neonatal diabetes mellitus Here we describe a patient with severe PNDM, which includes developmental delay ... BeFree 17259376 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp) AND Transitory neonatal diabetes mellitus ClinVar Detail
NA DisGeNET Detail
In the absence of MgATP, gliclazide block was similar for wild-type channels and those carrying the ... DisGeNET Detail
Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in add... DisGeNET Detail
Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in add... DisGeNET Detail
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of deve... DisGeNET Detail
Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in add... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs193929358 dbSNP
Genome
hg38
Position
chr11:17,387,091-17,387,091
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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